chr8-32595840-G-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_013964.5(NRG1):c.113G>A(p.Arg38Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.395 in 1,602,172 control chromosomes in the GnomAD database, including 132,325 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_013964.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NRG1 | NM_013964.5 | c.113G>A | p.Arg38Gln | missense_variant | 2/12 | ENST00000405005.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NRG1 | ENST00000405005.8 | c.113G>A | p.Arg38Gln | missense_variant | 2/12 | 1 | NM_013964.5 | A2 |
Frequencies
GnomAD3 genomes ? AF: 0.322 AC: 48749AN: 151506Hom.: 9560 Cov.: 32
GnomAD3 exomes AF: 0.399 AC: 98691AN: 247262Hom.: 22030 AF XY: 0.401 AC XY: 53645AN XY: 133766
GnomAD4 exome AF: 0.402 AC: 583779AN: 1450548Hom.: 122776 Cov.: 35 AF XY: 0.402 AC XY: 289904AN XY: 721876
GnomAD4 genome ? AF: 0.321 AC: 48739AN: 151624Hom.: 9549 Cov.: 32 AF XY: 0.325 AC XY: 24041AN XY: 74084
ClinVar
Submissions by phenotype
NRG1-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Mar 27, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at